Matches in SemOpenAlex for { <https://semopenalex.org/work/W2061546150> ?p ?o ?g. }
- W2061546150 endingPage "692" @default.
- W2061546150 startingPage "684" @default.
- W2061546150 abstract "Twenty-one members of a Swedish family suffering from myopathy and cardiomyopathy underwent neurological and cardiological investigations. Medical charts of 2 affected deceased patients were reviewed. Twelve patients had myopathy. The distribution of weakness was axial in mildly affected, axial and predominantly distal in moderately affected, and generalized in severely affected patients. The electromyogram showed signs of myopathy in 10 patients. Muscle biopsy specimens showed myopathic changes, rimmed vacuoles, and accumulation of desmin, dystrophin, and other proteins. Electron microscopy revealed granulofilamentous changes and disorganization of myofibrils. Several patients had episodes of chest pain or palpitations. Three men had arrhythmogenic right ventricular cardiomyopathy. Nonsustained ventricular tachycardia, atrial flutter, and dilatation of the ventricles mainly affecting the right ventricle were documented. Two of them had a pacemaker implanted because of atrioventricular block and sick sinus syndrome. Inheritance is autosomal dominant with variable onset and severity of skeletal muscle and cardiac involvement. Linkage analysis of candidate chromosomal regions showed a maximum 2-point LOD score of 2.76 for marker locus D10S1752 on chromosome 10q. A multipoint peak LOD score of 3.06 between markers D10S605 and D10S215 suggests linkage to chromosome 10q22.3, and this region may harbor a genetic defect for myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy." @default.
- W2061546150 created "2016-06-24" @default.
- W2061546150 creator A5010803106 @default.
- W2061546150 creator A5012407191 @default.
- W2061546150 creator A5016589844 @default.
- W2061546150 creator A5023626855 @default.
- W2061546150 creator A5028497308 @default.
- W2061546150 creator A5031903788 @default.
- W2061546150 creator A5050629872 @default.
- W2061546150 creator A5078824732 @default.
- W2061546150 creator A5080820625 @default.
- W2061546150 creator A5085168676 @default.
- W2061546150 creator A5088815771 @default.
- W2061546150 date "1999-11-01" @default.
- W2061546150 modified "2023-10-13" @default.
- W2061546150 title "Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q" @default.
- W2061546150 cites W1565633801 @default.
- W2061546150 cites W1603356205 @default.
- W2061546150 cites W1604252033 @default.
- W2061546150 cites W1965265115 @default.
- W2061546150 cites W1966735618 @default.
- W2061546150 cites W1968578519 @default.
- W2061546150 cites W1969774384 @default.
- W2061546150 cites W1971257175 @default.
- W2061546150 cites W1974639843 @default.
- W2061546150 cites W1983449837 @default.
- W2061546150 cites W1990664863 @default.
- W2061546150 cites W1990812602 @default.
- W2061546150 cites W1991571518 @default.
- W2061546150 cites W1995461033 @default.
- W2061546150 cites W1997621900 @default.
- W2061546150 cites W1999399446 @default.
- W2061546150 cites W2001650066 @default.
- W2061546150 cites W2006377991 @default.
- W2061546150 cites W2006534229 @default.
- W2061546150 cites W2010573880 @default.
- W2061546150 cites W2011243490 @default.
- W2061546150 cites W2018246187 @default.
- W2061546150 cites W2035138009 @default.
- W2061546150 cites W2040282341 @default.
- W2061546150 cites W2058904467 @default.
- W2061546150 cites W2060117113 @default.
- W2061546150 cites W2065486981 @default.
- W2061546150 cites W2065848250 @default.
- W2061546150 cites W2066311606 @default.
- W2061546150 cites W2079822758 @default.
- W2061546150 cites W2081803633 @default.
- W2061546150 cites W2084098503 @default.
- W2061546150 cites W2104555172 @default.
- W2061546150 cites W2119750496 @default.
- W2061546150 cites W2123386546 @default.
- W2061546150 cites W2170247603 @default.
- W2061546150 doi "https://doi.org/10.1002/1531-8249(199911)46:5<684::aid-ana2>3.0.co;2-#" @default.
- W2061546150 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10970245" @default.
- W2061546150 hasPublicationYear "1999" @default.
- W2061546150 type Work @default.
- W2061546150 sameAs 2061546150 @default.
- W2061546150 citedByCount "38" @default.
- W2061546150 countsByYear W20615461502012 @default.
- W2061546150 countsByYear W20615461502013 @default.
- W2061546150 countsByYear W20615461502014 @default.
- W2061546150 countsByYear W20615461502015 @default.
- W2061546150 countsByYear W20615461502016 @default.
- W2061546150 countsByYear W20615461502017 @default.
- W2061546150 countsByYear W20615461502020 @default.
- W2061546150 countsByYear W20615461502023 @default.
- W2061546150 crossrefType "journal-article" @default.
- W2061546150 hasAuthorship W2061546150A5010803106 @default.
- W2061546150 hasAuthorship W2061546150A5012407191 @default.
- W2061546150 hasAuthorship W2061546150A5016589844 @default.
- W2061546150 hasAuthorship W2061546150A5023626855 @default.
- W2061546150 hasAuthorship W2061546150A5028497308 @default.
- W2061546150 hasAuthorship W2061546150A5031903788 @default.
- W2061546150 hasAuthorship W2061546150A5050629872 @default.
- W2061546150 hasAuthorship W2061546150A5078824732 @default.
- W2061546150 hasAuthorship W2061546150A5080820625 @default.
- W2061546150 hasAuthorship W2061546150A5085168676 @default.
- W2061546150 hasAuthorship W2061546150A5088815771 @default.
- W2061546150 hasConcept C104317684 @default.
- W2061546150 hasConcept C126322002 @default.
- W2061546150 hasConcept C164705383 @default.
- W2061546150 hasConcept C2777300911 @default.
- W2061546150 hasConcept C2778198053 @default.
- W2061546150 hasConcept C2778797674 @default.
- W2061546150 hasConcept C30481170 @default.
- W2061546150 hasConcept C54355233 @default.
- W2061546150 hasConcept C71924100 @default.
- W2061546150 hasConcept C7301908 @default.
- W2061546150 hasConcept C86803240 @default.
- W2061546150 hasConceptScore W2061546150C104317684 @default.
- W2061546150 hasConceptScore W2061546150C126322002 @default.
- W2061546150 hasConceptScore W2061546150C164705383 @default.
- W2061546150 hasConceptScore W2061546150C2777300911 @default.
- W2061546150 hasConceptScore W2061546150C2778198053 @default.
- W2061546150 hasConceptScore W2061546150C2778797674 @default.
- W2061546150 hasConceptScore W2061546150C30481170 @default.
- W2061546150 hasConceptScore W2061546150C54355233 @default.
- W2061546150 hasConceptScore W2061546150C71924100 @default.